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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Schwartz-Lelek Syndrome
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Accession:DOID:9007292 term browser browse the term
Synonyms:exact_synonym: craniometadiaphyseal dysplasia;   genetic craniotubular bone dysplasias and hyperostoses
 primary_id: MESH:C537519
 alt_id: OMIM:269300;   RDO:0003374


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Schwartz-Lelek Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO DNA:missense mutation: :c.716G>A (p.R239Q) (human) RGD PMID:23951358 RGD:8662399 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      Schwartz-Lelek Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        peripheral nervous system disease 4075
          neuropathy 3862
            neuromuscular disease 3038
              muscular disease 2122
                Craniomandibular Disorders 27
                  craniometaphyseal dysplasia 3
                    Schwartz-Lelek Syndrome 1
paths to the root